K37R (p.Lys37Arg) variant of CDC73 (Parafibromin)
K37R (p.Lys37Arg) in CDC73 (Parafibromin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hereditary cancer-predisposing syndrome; Parathyroid carcinoma. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data, published literature, and structural context.
K37R (p.Lys37Arg) variant details
- p.Lys37Arg
- rs890428520
- ClinGen CA34407992
- ClinVar RCV002050055
- ClinVar RCV005533057
- Uncertain significance
- Hereditary cancer-predisposing syndrome; Parathyroid carcinoma
- Missense
- Variant Prioritization Score for Impact Estimate 0.539
- REVEL 0.52
- MetaLR 0.47
- MetaSVM -0.09
- CADD 26.10
- SIFT 0.11
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; Parathyroid carcinoma)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- Cited in: A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic… (PMID 25394175)
- Cited in: CDC73-Related Disorders. (PMID 20301744)